| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31059582T>C | CA297678747 | DSC2 | c.*8641A>G (n.*8641A>G) c.*8433A>G (n.*8433A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31059582T= | CA2293641574 | DSC2 | c.*8641A= (n.*8641A=) c.*8433A= (n.*8433A=) | dbSNP |